example_run

23X_15q26_overgrowth_r1: cluster 1 (out of 9)

1. del(1)(q32.2q32.3): deletion on Chr1: 207,385,675-211,552,235 (q32.2 - q32.3) (7, 'deletion', ['1.1.wt(2+).1+.3+'])

SV rationale gene name gene omim
1 CN-1 IRF6 607199
1 CN-1 KCNH1 603305
seg index chr start end size
1 Chr1 14,454 207,385,674 207,371,221
2 Chr1 207,385,675 211,552,235 4,166,561
3 Chr1 211,552,236 248,943,332 37,391,097

mt_haps

0: ['1+', '2+', '3+']

1: ['1+', '3+']

wt_haps

['1+', '2+', '3+']

['1+', '2+', '3+']

alignments

['1+', '2+', '3+'] ['1+', '2+', '3+']

['1+', '-', '3+'] ['1+', '2+', '3+']

Image

23X_15q26_overgrowth_r1: cluster 2 (out of 9)

1. del(2)(q11.1q37.3): deletion on Chr2: 94,052,823-241,869,133 (q11.1 - q37.3) (8, 'deletion', ['3.1.wt(7+,8+,9+).6+.10+'])

SV rationale gene name gene omim
1 CN-1 ADRA2B 104260
1 CN-1 NCAPH 602332
1 CN-1 INPP4A 600916
1 CN-1 COA5 613920
1 CN-1 LIPT1 610284
1 CN-1 AFF3 601464
1 CN-1 POU3F3 602480
1 CN-1 SLC5A7 608761
1 CN-1 RANBP2 601181
1 CN-1 EDAR 604095
1 CN-1 NPHP1 607100
1 CN-1 BUB1 602452
1 CN-1 ANAPC1 608473
1 CN-1 CKAP2L 616174
1 CN-1 PAX8 167415
1 CN-1 GLI2 165230
1 CN-1 BIN1 601248
1 CN-1 ERCC3 133510
1 CN-1 SMPD4 610457
1 CN-1 CCDC115 613734
1 CN-1 CFC1 605194
1 CN-1 TMEM163 618978
1 CN-1 RAB3GAP1 602536
1 CN-1 DARS1 603084
1 CN-1 ZEB2 605802
1 CN-1 ORC4 603056
1 CN-1 MBD5 611472
1 CN-1 KIF5C 604593
1 CN-1 MMADHC 611935
1 CN-1 NEB 161650
1 CN-1 CACNB4 601949
1 CN-1 NR4A2 601828
1 CN-1 ACVR1 102576
1 CN-1 BAZ2B 605683
1 CN-1 TBR1 604616
1 CN-1 IFIH1 606951
1 CN-1 SCN3A 182391
1 CN-1 SCN2A 182390
1 CN-1 SCN1A 182389
1 CN-1 ABCB11 603201
1 CN-1 LRP2 600073
1 CN-1 BBS5 603650
1 CN-1 METTL5 618628
1 CN-1 GAD1 605363
1 CN-1 DCAF17 612515
1 CN-1 DYNC1I2 603331
1 CN-1 ITGA6 147556
1 CN-1 CHRNA1 100690
1 CN-1 LNPK 610236
1 CN-1 HOXD13 142989
1 CN-1 NFE2L2 600492
1 CN-1 AGPS 603051
1 CN-1 TTN 188840
1 CN-1 NCKAP1 604891
1 CN-1 HIBCH 610690
1 CN-1 HECW2 617245
1 CN-1 PGAP1 611655
1 CN-1 HSPD1 118190
1 CN-1 SATB2 608148
1 CN-1 NDUFB3 603839
1 CN-1 TMEM237 614423
1 CN-1 ALS2 606352
1 CN-1 SUMO1 601912
1 CN-1 NDUFS1 157655
1 CN-1 EEF1B2 600655
1 CN-1 KLF7 604865
1 CN-1 FZD5 601723
1 CN-1 CRYGD 123690
1 CN-1 CRYGC 123680
1 CN-1 UNC80 612636
1 CN-1 MYL1 160780
1 CN-1 CPS1 608307
1 CN-1 ATIC 601731
1 CN-1 FN1 135600
1 CN-1 PECR 605843
1 CN-1 SMARCAL1 606622
1 CN-1 ZNF142 604083
1 CN-1 BCS1L 603647
1 CN-1 CYP27A1 606530
1 CN-1 IHH 600726
1 CN-1 ABCB6 605452
1 CN-1 SPEG 615950
1 CN-1 GMPPA 615495
1 CN-1 OBSL1 610991
1 CN-1 PAX3 606597
1 CN-1 CUL3 603136
1 CN-1 COL4A4 120131
1 CN-1 COL4A3 120070
1 CN-1 MFF 614785
1 CN-1 TM4SF20 615404
1 CN-1 SLC19A3 606152
1 CN-1 DAW1 620279
1 CN-1 TRIP12 604506
1 CN-1 ARMC9 617612
1 CN-1 DIS3L2 614184
1 CN-1 ECEL1 605896
1 CN-1 PRSS56 613858
1 CN-1 CHRNG 100730
1 CN-1 UGT1A1 191740
1 CN-1 COL6A3 120250
1 CN-1 TWIST2 607556
1 CN-1 HDAC4 605314
1 CN-1 NDUFA10 603835
1 CN-1 CAPN10 605286
1 CN-1 KIF1A 601255
1 CN-1 AGXT 604285
1 CN-1 D2HGDH 609186
seg index chr start end size
4 Chr2 15,925 87,052,278 87,036,354
5 Chr2 87,052,279 87,717,319 665,041
6 Chr2 87,717,320 94,052,822 6,335,503
7 Chr2 94,052,823 187,658,781 93,605,959
8 Chr2 187,663,333 188,605,824 942,492
9 Chr2 188,608,772 241,869,133 53,260,362
10 Chr2 241,869,134 242,181,356 312,223

mt_haps

2: ['4+', '5+', '6+', '7+', '8+', '9+', '10+']

3: ['4+', '5+', '6+', '10+']

wt_haps

['4+', '5+', '6+', '7+', '8+', '9+', '10+']

['4+', '5+', '6+', '7+', '8+', '9+', '10+']

alignments

['4+', '5+', '6+', '7+', '8+', '9+', '10+'] ['4+', '5+', '6+', '7+', '8+', '9+', '10+']

['4+', '5+', '6+', '-', '-', '-', '10+'] ['4+', '5+', '6+', '7+', '8+', '9+', '10+']

Image

23X_15q26_overgrowth_r1: cluster 3 (out of 9)

1. inv(3)(p24.1p22.3): inversion on Chr3: 29,280,414-32,379,198 (p24.1 - p22.3) (1, 'inversion', ['5.1,2.(12+),wt(12+),mt(12-).11+.13+'])

seg index chr start end size
11 Chr3 0 29,280,413 29,280,414
12 Chr3 29,280,414 32,379,198 3,098,785
13 Chr3 32,379,199 198,230,596 165,851,398

mt_haps

4: ['11+', '12+', '13+']

5: ['11+', '12-', '13+']

wt_haps

['11+', '12+', '13+']

['11+', '12+', '13+']

alignments

['11+', '12+', '13+'] ['11+', '12+', '13+']

['11+', '-', '12-', '13+'] ['11+', '12+', '-', '13+']

Image

23X_15q26_overgrowth_r1: cluster 4 (out of 9)

1. del(5)(p14.1p13.3): deletion on Chr5: 25,410,912-32,718,732 (p14.1 - p13.3) (9, 'deletion', ['9.1.wt(16+).15+.17+'])

SV rationale gene name gene omim
1 breakpoint proximal NPR3 108962
1 CN-1 NPR3 108962
seg index chr start end size
15 Chr5 19,315 25,410,911 25,391,597
16 Chr5 25,410,912 32,718,732 7,307,821
17 Chr5 32,730,622 181,472,713 148,742,092

mt_haps

8: ['15+', '16+', '17+']

9: ['15+', '17+']

wt_haps

['15+', '16+', '17+']

['15+', '16+', '17+']

alignments

['15+', '16+', '17+'] ['15+', '16+', '17+']

['15+', '-', '17+'] ['15+', '16+', '17+']

Image

23X_15q26_overgrowth_r1: cluster 5 (out of 9)

1. ins-t(6;6)(p25.3;q26q26): balanced non-reciprocal translocation of Chr6: 163,785,222-163,876,868 (q26 - q26) into Chr6: 76217(p25.3) (0, 'balanced_translocation_unassociated', ['10.1.mt(19+).18+.19+', '11.1.wt(19+).18+.21-'])

2. ins(6)(p25.3q27q26): duplicated-insertion of Chr6: 170,739,896-163,876,869 (q27 - q26) into Chr6: 76,217 (p25.3) (12, 'insertion', ['11.2.mt(21-,20-).18+.20+'])

3. del(6)(q27): deletion on Chr6: 170,070,789-170,739,896 (q27 - q27) (10, 'deletion', ['11.4.wt(21+).20+.q-ter'])

SV rationale gene name gene omim
2 CN+1 PDE10A 610652
2 CN+1 RNASET2 612944
2 CN+1 SMOC2 607223
2 CN+1 ERMARD 615532
seg index chr start end size
18 Chr6 76,217 163,785,221 163,709,005
19 Chr6 163,785,222 163,876,868 91,647
20 Chr6 163,876,869 170,070,788 6,193,920
21 Chr6 170,070,789 170,739,896 669,108

mt_haps

10: ['18+', '19+', '19+', '20+', '21+']

11: ['18+', '21-', '20-', '20+']

wt_haps

['18+', '19+', '20+', '21+']

['18+', '19+', '20+', '21+']

alignments

['18+', '19+', '19+', '20+', '21+'] ['18+', '-', '19+', '20+', '21+']

['18+', '-', '21-', '20-', '20+', '-'] ['18+', '19+', '-', '-', '20+', '21+']

Image

23X_15q26_overgrowth_r1: cluster 6 (out of 9)

1. dup(8)(q24.21q24.23): tandem duplication on Chr8: 128,351,262-137,208,297 (q24.21 - q24.23) (5, 'tandem_duplication', ['15.1.mt(25+).23+.24+'])

SV rationale gene name gene omim
1 CN+1 KCNQ3 602232
1 CN+1 DNAAF11 614930
seg index chr start end size
23 Chr8 61,806 128,287,039 128,225,234
24 Chr8 128,287,040 128,351,261 64,222
25 Chr8 128,351,262 137,208,297 8,857,036
26 Chr8 137,211,812 145,076,124 7,864,313

mt_haps

14: ['23+', '24+', '25+', '26+']

15: ['23+', '25+', '24+', '25+', '26+']

wt_haps

['23+', '24+', '25+', '26+']

['23+', '24+', '25+', '26+']

alignments

['23+', '24+', '25+', '26+'] ['23+', '24+', '25+', '26+']

['23+', '25+', '24+', '25+', '26+'] ['23+', '-', '24+', '25+', '26+']

Image

23X_15q26_overgrowth_r1: cluster 7 (out of 9)

1. inv(11)(q23.3): inversion on Chr11: 116,012,930-120,316,431 (q23.3 - q23.3) (2, 'inversion', ['21.1,2.(32+),wt(32+),mt(32-).31+.33+'])

seg index chr start end size
31 Chr11 0 116,012,929 116,012,930
32 Chr11 116,012,930 120,316,431 4,303,502
33 Chr11 120,316,432 135,069,565 14,753,134

mt_haps

20: ['31+', '32+', '33+']

21: ['31+', '32-', '33+']

wt_haps

['31+', '32+', '33+']

['31+', '32+', '33+']

alignments

['31+', '32+', '33+'] ['31+', '32+', '33+']

['31+', '-', '32-', '33+'] ['31+', '32+', '-', '33+']

Image

23X_15q26_overgrowth_r1: cluster 8 (out of 9)

1. inv(13)(q33.2q34): inversion on Chr13: 105,337,629-114,352,102 (q33.2 - q34) (3, 'inversion', ['25.1,2.(36+),wt(36+),mt(36-).35+.q-ter'])

SV rationale gene name gene omim
1 breakpoint proximal CHAMP1 616327
seg index chr start end size
35 Chr13 0 105,337,628 105,337,629
36 Chr13 105,337,629 114,352,102 9,014,474

mt_haps

24: ['35+', '36+']

25: ['35+', '36-']

wt_haps

['35+', '36+']

['35+', '36+']

alignments

['35+', '36+'] ['35+', '36+']

['35+', '-', '36-'] ['35+', '36+', '-']

Image

23X_15q26_overgrowth_r1: cluster 9 (out of 9)

1. inv(15)(q13.2q13.3): inversion on Chr15: 30,767,337-31,638,353 (q13.2 - q13.3) (4, 'inversion', ['29.1,2.(39+),wt(39+),mt(39-).38+.40+'])

2. del(15)(q14q15.2): deletion on Chr15: 35,542,079-43,266,426 (q14 - q15.2) (11, 'deletion', ['29.4.wt(41+).40+.42+'])

3. dup(15)(q26.3): tandem duplication on Chr15: 98,842,474-101,744,858 (q26.3 - q26.3) (6, 'tandem_duplication', ['29.6.mt(43+).42+.43+'])

SV rationale gene name gene omim
1 breakpoint proximal OTUD7A 612024
2 breakpoint proximal OTUD7A 612024
3 breakpoint proximal IGF1R 147370
2 CN-1 MEIS2 601740
2 CN-1 SPRED1 609291
2 CN-1 BUB1B 602860
2 CN-1 IVD 607036
2 CN-1 CHST14 608429
2 CN-1 CCDC32 618941
2 CN-1 RAD51 179617
2 CN-1 ZFYVE19 619635
2 CN-1 DLL4 605185
2 CN-1 UBR1 605981
3 CN+1 IGF1R 147370
3 CN+1 LINS1 610350
3 CN+1 ALDH1A3 600463
3 CN+1 CHSY1 608183
seg index chr start end size
38 Chr15 17,050,954 30,767,336 13,716,383
39 Chr15 30,767,337 31,638,353 871,017
40 Chr15 31,638,354 35,531,083 3,892,730
41 Chr15 35,542,079 43,266,426 7,724,348
42 Chr15 43,266,427 98,842,473 55,576,047
43 Chr15 98,842,474 101,744,858 2,902,385
44 Chr15 101,744,859 101,976,508 231,650

mt_haps

28: ['38+', '39+', '40+', '41+', '42+', '43+', '44+']

29: ['38+', '39-', '40+', '42+', '43+', '43+', '44+']

wt_haps

['38+', '39+', '40+', '41+', '42+', '43+', '44+']

['38+', '39+', '40+', '41+', '42+', '43+', '44+']

alignments

['38+', '39+', '40+', '41+', '42+', '43+', '44+'] ['38+', '39+', '40+', '41+', '42+', '43+', '44+']

['38+', '-', '39-', '40+', '-', '42+', '43+', '43+', '44+'] ['38+', '39+', '-', '40+', '41+', '42+', '-', '43+', '44+']

Image

23X_Angelman_r1: cluster 1 (out of 7)

1. t(1;9)(q24.3;q21.31): balanced translocation between Chr1 and Chr9, between segments Chr1: 172,726,872-248,943,333 (q24.3 - q44) and Chr9: 79,166,098-138,334,463 (q21.31 - q34.3) (1, 'balanced_translocation_associated<0>', ['0.2.mt(33+).2+.q-ter', '2.1.wt(33+).32+.2+'])

2. ins-t(1;1)(p36.33;q24.1q24.3): balanced non-reciprocal translocation of Chr1: 166,182,767-172,726,871 (q24.1 - q24.3) into Chr1: 0(p36.33) (2, 'balanced_translocation_unassociated', ['2.2a.mt(2+).32+.3+', '3.1.wt(2+).1+.3+'])

seg index chr start end size
1 Chr1 0 166,182,766 166,182,767
2 Chr1 166,182,767 172,726,871 6,544,105
3 Chr1 172,726,872 248,943,333 76,216,462
28 Chr9 14,567 61,552,686 61,538,120
29 Chr9 61,552,687 65,588,579 4,035,893
30 Chr9 65,588,580 66,255,740 667,161
31 Chr9 66,255,741 73,445,097 7,189,357
32 Chr9 73,445,098 79,166,097 5,721,000
33 Chr9 79,166,098 138,334,463 59,168,366

mt_haps

0: ['1+', '2+', '33+']

3: ['1+', '3+']

1: ['28+', '29+', '30+', '31+', '32+', '33+']

2: ['28+', '29+', '30+', '31+', '32+', '2+', '3+']

wt_haps

['1+', '2+', '3+']

['1+', '2+', '3+']

['28+', '29+', '30+', '31+', '32+', '33+']

['28+', '29+', '30+', '31+', '32+', '33+']

alignments

['1+', '2+', '-', '33+'] ['1+', '2+', '3+', '-']

['1+', '-', '3+'] ['1+', '2+', '3+']

['28+', '29+', '30+', '31+', '32+', '33+'] ['28+', '29+', '30+', '31+', '32+', '33+']

['28+', '29+', '30+', '31+', '32+', '-', '2+', '3+'] ['28+', '29+', '30+', '31+', '32+', '33+', '-', '-']

Image

23X_Angelman_r1: cluster 2 (out of 7)

1. ins-t(2;2)(q32.1;q32.2q32.2): balanced non-reciprocal translocation of Chr2: 188,861,310-188,939,570 (q32.2 - q32.2) into Chr2: 185128476(q32.1) (3, 'balanced_translocation_unassociated', ['4.1.mt(10+).9+.10+', '5.4.wt(10+).9+.9-'])

2. inv(2)(p16.3p16.2): inversion on Chr2: 48,699,768-54,118,053 (p16.3 - p16.2) (6, 'inversion', ['5.1,2.(5+),wt(5+),mt(5-).4+.6+'])

3. ins(2)(q32.1q32.2q32.1): duplicated-insertion of Chr2: 188,861,309-185,128,476 (q32.2 - q32.1) into Chr2: 185,128,476 (q32.1) (17, 'insertion', ['5.5.mt(9-).9+.11+'])

seg index chr start end size
4 Chr2 15,925 48,699,767 48,683,843
5 Chr2 48,699,768 54,118,053 5,418,286
6 Chr2 54,118,054 87,052,278 32,934,225
7 Chr2 87,052,279 87,717,319 665,041
8 Chr2 87,717,320 185,119,300 97,401,981
9 Chr2 185,128,476 188,861,309 3,732,834
10 Chr2 188,861,310 188,939,570 78,261
11 Chr2 188,939,571 242,181,356 53,241,786

mt_haps

4: ['4+', '5+', '6+', '7+', '8+', '9+', '10+', '10+', '11+']

5: ['4+', '5-', '6+', '7+', '8+', '9+', '9-', '11+']

wt_haps

['4+', '5+', '6+', '7+', '8+', '9+', '10+', '11+']

['4+', '5+', '6+', '7+', '8+', '9+', '10+', '11+']

alignments

['4+', '5+', '6+', '7+', '8+', '9+', '10+', '10+', '11+'] ['4+', '5+', '6+', '7+', '8+', '9+', '-', '10+', '11+']

['4+', '-', '5-', '6+', '7+', '8+', '9+', '-', '9-', '11+'] ['4+', '5+', '-', '6+', '7+', '8+', '9+', '10+', '-', '11+']

Image

23X_Angelman_r1: cluster 3 (out of 7)

1. right-dup-inv(5)(q14.1q14.3): right duplication inversion on Chr5: 80,543,566-89,331,805 (q14.1 - q14.3) (7, 'right_duplication_inversion', ['11.1.mt(16-).16+.17+'])

2. dup(5)(q22.3q23.1): tandem duplication on Chr5: 115,213,463-119,187,471 (q22.3 - q23.1) (10, 'tandem_duplication', ['11.3.mt(19+).18+.19+'])

SV rationale gene name gene omim
1 CN+1 DHFR 126060
1 CN+1 RPS23 603683
1 CN+1 XRCC4 194363
1 CN+1 RASA1 139150
1 CN+1 MEF2C 600662
2 CN+1 FEM1C 608767
seg index chr start end size
14 Chr5 19,315 80,425,291 80,405,977
15 Chr5 80,425,292 80,543,565 118,274
16 Chr5 80,543,566 89,331,805 8,788,240
17 Chr5 89,331,806 89,610,127 278,322
18 Chr5 89,610,128 115,213,462 25,603,335
19 Chr5 115,213,463 119,187,471 3,974,009
20 Chr5 119,187,472 181,472,713 62,285,242

mt_haps

10: ['14+', '15+', '16+', '17+', '18+', '19+', '20+']

11: ['14+', '15+', '16+', '16-', '17+', '18+', '19+', '19+', '20+']

wt_haps

['14+', '15+', '16+', '17+', '18+', '19+', '20+']

['14+', '15+', '16+', '17+', '18+', '19+', '20+']

alignments

['14+', '15+', '16+', '17+', '18+', '19+', '20+'] ['14+', '15+', '16+', '17+', '18+', '19+', '20+']

['14+', '15+', '16+', '16-', '17+', '18+', '19+', '19+', '20+'] ['14+', '15+', '16+', '-', '17+', '18+', '-', '19+', '20+']

Image

23X_Angelman_r1: cluster 4 (out of 7)

1. dup(7)(p12.3p12.1): tandem duplication on Chr7: 46,579,906-52,168,858 (p12.3 - p12.1) (11, 'tandem_duplication', ['15.1.mt(23+).22+.23+'])

2. del(7)(q31.2q31.32): deletion on Chr7: 117,394,850-122,945,416 (q31.2 - q31.32) (13, 'deletion', ['15.3.wt(25+).24+.26+'])

SV rationale gene name gene omim
1 CN+1 PKD1L1 609721
1 CN+1 DDC 107930
2 CN-1 AASS 605113
2 CN-1 FEZF1 613301
seg index chr start end size
22 Chr7 10,488 46,574,870 46,564,383
23 Chr7 46,579,906 52,168,858 5,588,953
24 Chr7 52,170,419 117,386,987 65,216,569
25 Chr7 117,394,850 122,945,416 5,550,567
26 Chr7 122,952,146 159,334,983 36,382,838

mt_haps

14: ['22+', '23+', '24+', '25+', '26+']

15: ['22+', '23+', '23+', '24+', '26+']

wt_haps

['22+', '23+', '24+', '25+', '26+']

['22+', '23+', '24+', '25+', '26+']

alignments

['22+', '23+', '24+', '25+', '26+'] ['22+', '23+', '24+', '25+', '26+']

['22+', '23+', '23+', '24+', '-', '26+'] ['22+', '-', '23+', '24+', '25+', '26+']

Image

23X_Angelman_r1: cluster 5 (out of 7)

1. ins-t(11;11)(p15.2;p14.3p13): balanced non-reciprocal translocation of Chr11: 26,045,623-32,287,779 (p14.3 - p13) into Chr11: 16061951(p15.2) (4, 'balanced_translocation_unassociated', ['21.1.mt(44+).37+.43+', '21.6b.wt(44+).42+.45+'])

2. ins-t(11;11)(p15.2;p15.1p14.3): balanced non-reciprocal translocation of Chr11: 21,329,925-26,045,622 (p15.1 - p14.3) into Chr11: 16061951(p15.2) (5, 'balanced_translocation_unassociated', ['21.2.mt(43+).44+.38+', '21.6a.wt(43+).42+.45+'])

3. right-dup-inv(11)(p15.3p15.2): right duplication inversion on Chr11: 11,973,235-15,880,728 (p15.3 - p15.2) (8, 'right_duplication_inversion', ['21.4.mt(40-).40+.41+'])

4. dup(11)(q12.1q12.2): tandem duplication on Chr11: 56,370,292-60,248,587 (q12.1 - q12.2) (12, 'tandem_duplication', ['21.8.mt(46+).45+.46+'])

SV rationale gene name gene omim
3 CN+1 PTH 168450
3 CN+1 FAR1 616107
3 CN+1 RRAS2 600098
3 CN+1 COPB1 600959
4 CN+1 CLP1 608757
4 CN+1 TMX2 616715
4 CN+1 CTNND1 601045
4 CN+1 FAM111A 615292
seg index chr start end size
37 Chr11 60,458 11,810,885 11,750,428
38 Chr11 11,810,886 11,901,418 90,533
39 Chr11 11,901,419 11,973,234 71,816
40 Chr11 11,973,235 15,880,728 3,907,494
41 Chr11 15,880,729 16,061,950 181,222
42 Chr11 16,061,951 21,329,924 5,267,974
43 Chr11 21,329,925 26,045,622 4,715,698
44 Chr11 26,045,623 32,287,779 6,242,157
45 Chr11 32,287,780 56,370,291 24,082,512
46 Chr11 56,370,292 60,248,587 3,878,296
47 Chr11 60,248,588 135,069,564 74,820,977

mt_haps

20: ['37+', '38+', '39+', '40+', '41+', '42+', '43+', '44+', '45+', '46+', '47+']

21: ['37+', '44+', '43+', '38+', '39+', '40+', '40-', '41+', '42+', '45+', '46+', '46+', '47+']

wt_haps

['37+', '38+', '39+', '40+', '41+', '42+', '43+', '44+', '45+', '46+', '47+']

['37+', '38+', '39+', '40+', '41+', '42+', '43+', '44+', '45+', '46+', '47+']

alignments

['37+', '38+', '39+', '40+', '41+', '42+', '43+', '44+', '45+', '46+', '47+'] ['37+', '38+', '39+', '40+', '41+', '42+', '43+', '44+', '45+', '46+', '47+']

['37+', '44+', '43+', '38+', '39+', '40+', '40-', '41+', '42+', '-', '-', '45+', '46+', '46+', '47+'] ['37+', '-', '-', '38+', '39+', '40+', '-', '41+', '42+', '43+', '44+', '45+', '-', '46+', '47+']

Image

23X_Angelman_r1: cluster 6 (out of 7)

1. del(15)(q11.2q13.1): deletion on Chr15: 22,114,848-28,215,386 (q11.2 - q13.1) (14, 'deletion', ['29.1.wt(52+).51+.53+'])

2. left-dup-inv(15)(q14q21.1): left duplication inversion on Chr15: 36,267,982-45,876,375 (q14 - q21.1) (9, 'left_duplication_inversion', ['29.3.mt(55-).54+.55+'])

3. del(15)(q21.3q22.2): deletion on Chr15: 57,282,556-60,282,474 (q21.3 - q22.2) (15, 'deletion', ['29.5.wt(58+).57+.59+'])

SV rationale gene name gene omim
1 breakpoint proximal HERC2 605837
3 breakpoint proximal TCF12 600480
1 CN-1 MAGEL2 605283
1 CN-1 UBE3A 601623
1 CN-1 GABRB3 137192
1 CN-1 HERC2 605837
2 CN+1 MEIS2 601740
2 CN+1 SPRED1 609291
2 CN+1 BUB1B 602860
2 CN+1 IVD 607036
2 CN+1 CHST14 608429
2 CN+1 CCDC32 618941
2 CN+1 RAD51 179617
2 CN+1 ZFYVE19 619635
2 CN+1 DLL4 605185
2 CN+1 UBR1 605981
2 CN+1 TUBGCP4 609610
2 CN+1 FRMD5 616309
2 CN+1 SPG11 610844
2 CN+1 GATM 602360
2 CN+1 BLOC1S6 604310
3 CN-1 TCF12 600480
3 CN-1 ALDH1A2 603687
seg index chr start end size
51 Chr15 17,050,954 22,114,847 5,063,894
52 Chr15 22,114,848 28,215,386 6,100,539
53 Chr15 28,215,387 36,193,053 7,977,667
54 Chr15 36,193,054 36,267,981 74,928
55 Chr15 36,267,982 45,876,375 9,608,394
56 Chr15 45,876,376 45,939,127 62,752
57 Chr15 45,939,128 57,282,555 11,343,428
58 Chr15 57,282,556 60,282,474 2,999,919
59 Chr15 60,282,475 101,976,508 41,694,034

mt_haps

28: ['51+', '52+', '53+', '54+', '55+', '56+', '57+', '58+', '59+']

29: ['51+', '53+', '54+', '55-', '55+', '56+', '57+', '59+']

wt_haps

['51+', '52+', '53+', '54+', '55+', '56+', '57+', '58+', '59+']

['51+', '52+', '53+', '54+', '55+', '56+', '57+', '58+', '59+']

alignments

['51+', '52+', '53+', '54+', '55+', '56+', '57+', '58+', '59+'] ['51+', '52+', '53+', '54+', '55+', '56+', '57+', '58+', '59+']

['51+', '-', '53+', '54+', '55-', '55+', '56+', '57+', '-', '59+'] ['51+', '52+', '53+', '54+', '-', '55+', '56+', '57+', '58+', '59+']

Image

23X_Angelman_r1: cluster 7 (out of 7)

1. del(21)(q21.1): deletion on Chr21: 15,046,745-20,949,614 (q21.1 - q21.1) (16, 'deletion', ['41.1.wt(68+).67+.69+'])

seg index chr start end size
67 Chr21 5,010,515 15,046,744 10,036,230
68 Chr21 15,046,745 20,949,614 5,902,870
69 Chr21 20,949,615 46,697,229 25,747,615

mt_haps

40: ['67+', '68+', '69+']

41: ['67+', '69+']

wt_haps

['67+', '68+', '69+']

['67+', '68+', '69+']

alignments

['67+', '68+', '69+'] ['67+', '68+', '69+']

['67+', '-', '69+'] ['67+', '68+', '69+']

Image

23X_1q21_recurrent_microduplication_r1: cluster 1 (out of 10)

1. dup(1)(q21.1q21.2): tandem duplication on Chr1: 147,057,352-148,302,015 (q21.1 - q21.2) (9, 'tandem_duplication', ['1.1.mt(2+).1+.2+'])

SV rationale gene name gene omim
1 CN+1 GJA8 600897
seg index chr start end size
1 Chr1 14,454 147,057,351 147,042,898
2 Chr1 147,057,352 148,302,015 1,244,664
3 Chr1 148,302,016 248,943,332 100,641,317

mt_haps

0: ['1+', '2+', '3+']

1: ['1+', '2+', '2+', '3+']

wt_haps

['1+', '2+', '3+']

['1+', '2+', '3+']

alignments

['1+', '2+', '3+'] ['1+', '2+', '3+']

['1+', '2+', '2+', '3+'] ['1+', '-', '2+', '3+']

Image

23X_1q21_recurrent_microduplication_r1: cluster 2 (out of 10)

1. del(2)(p24.3): deletion on Chr2: 12,905,355-14,337,630 (p24.3 - p24.3) (15, 'deletion', ['3.1.wt(5+).4+.6+'])

2. dup(2)(p16.3p16.2): tandem duplication on Chr2: 52,097,251-52,835,880 (p16.3 - p16.2) (10, 'tandem_duplication', ['3.3.mt(7+).6+.7+'])

seg index chr start end size
4 Chr2 15,925 12,905,354 12,889,430
5 Chr2 12,905,355 14,337,630 1,432,276
6 Chr2 14,337,631 52,097,250 37,759,620
7 Chr2 52,097,251 52,835,880 738,630
8 Chr2 52,835,881 87,052,278 34,216,398
9 Chr2 87,052,279 87,717,319 665,041
10 Chr2 87,717,320 242,181,356 154,464,037

mt_haps

2: ['4+', '5+', '6+', '7+', '8+', '9+', '10+']

3: ['4+', '6+', '7+', '7+', '8+', '9+', '10+']

wt_haps

['4+', '5+', '6+', '7+', '8+', '9+', '10+']

['4+', '5+', '6+', '7+', '8+', '9+', '10+']

alignments

['4+', '5+', '6+', '7+', '8+', '9+', '10+'] ['4+', '5+', '6+', '7+', '8+', '9+', '10+']

['4+', '-', '6+', '7+', '7+', '8+', '9+', '10+'] ['4+', '5+', '6+', '-', '7+', '8+', '9+', '10+']

Image

23X_1q21_recurrent_microduplication_r1: cluster 3 (out of 10)

1. ins-t(3;3)(p14.3;p14.3p14.3): balanced non-reciprocal translocation of Chr3: 58,401,101-58,453,602 (p14.3 - p14.3) into Chr3: 57594837(p14.3) (0, 'balanced_translocation_unassociated', ['4.1.mt(15+).14+.15+', '7.5.wt(15+).14+.16-'])

2. ins-t(6;6)(p25.3;q24.1q24.1): balanced non-reciprocal translocation of Chr6: 139,606,650-140,923,003 (q24.1 - q24.1) into Chr6: 0(p25.3) (1, 'balanced_translocation_unassociated', ['5.1.wt(25+).24+.26+', '7.1.mt(25+).11+.12+'])

3. right-dup-inv(3)(p14.3): right duplication inversion on Chr3: 55,886,654-57,585,230 (p14.3 - p14.3) (6, 'right_duplication_inversion', ['7.3.mt(13-).13+.14+'])

4. left-dup-inv(3)(p14.3p14.2): left duplication inversion on Chr3: 58,453,603-60,264,626 (p14.3 - p14.2) (7, 'left_duplication_inversion', ['7.6.mt(16-).14+.16+'])

5. dup(3)(p11.1): tandem duplication on Chr3: 88,532,600-89,230,241 (p11.1 - p11.1) (11, 'tandem_duplication', ['7.8.mt(18+).17+.18+'])

SV rationale gene name gene omim
3 CN+1 HESX1 601802
seg index chr start end size
11 Chr3 12,920 50,855,069 50,842,150
12 Chr3 50,855,070 55,871,523 5,016,454
13 Chr3 55,886,654 57,585,230 1,698,577
14 Chr3 57,594,837 58,401,100 806,264
15 Chr3 58,401,101 58,453,602 52,502
16 Chr3 58,453,603 60,264,626 1,811,024
17 Chr3 60,266,723 88,532,599 28,265,877
18 Chr3 88,532,600 89,230,241 697,642
19 Chr3 89,230,242 198,230,595 109,000,354
24 Chr6 0 139,606,649 139,606,650
25 Chr6 139,606,650 140,923,003 1,316,354
26 Chr6 140,923,004 170,739,897 29,816,894

mt_haps

4: ['11+', '12+', '13+', '14+', '15+', '15+', '16+', '17+', '18+', '19+']

7: ['11+', '25+', '12+', '13+', '13-', '14+', '16-', '16+', '17+', '18+', '18+', '19+']

6: ['24+', '25+', '26+']

5: ['24+', '26+']

wt_haps

['11+', '12+', '13+', '14+', '15+', '16+', '17+', '18+', '19+']

['11+', '12+', '13+', '14+', '15+', '16+', '17+', '18+', '19+']

['24+', '25+', '26+']

['24+', '25+', '26+']

alignments

['11+', '12+', '13+', '14+', '15+', '15+', '16+', '17+', '18+', '19+'] ['11+', '12+', '13+', '14+', '-', '15+', '16+', '17+', '18+', '19+']

['11+', '25+', '12+', '13+', '13-', '14+', '-', '16-', '16+', '17+', '18+', '18+', '19+'] ['11+', '-', '12+', '13+', '-', '14+', '15+', '-', '16+', '17+', '-', '18+', '19+']

['24+', '25+', '26+'] ['24+', '25+', '26+']

['24+', '-', '26+'] ['24+', '25+', '26+']

Image

23X_1q21_recurrent_microduplication_r1: cluster 4 (out of 10)

1. inv(4)(q34.2): inversion on Chr4: 175,411,677-176,466,225 (q34.2 - q34.2) (3, 'inversion', ['9.1,2.(21+),wt(21+),mt(21-).20+.22+'])

seg index chr start end size
20 Chr4 0 175,411,676 175,411,677
21 Chr4 175,411,677 176,466,225 1,054,549
22 Chr4 176,466,226 190,202,564 13,736,339

mt_haps

8: ['20+', '21+', '22+']

9: ['20+', '21-', '22+']

wt_haps

['20+', '21+', '22+']

['20+', '21+', '22+']

alignments

['20+', '21+', '22+'] ['20+', '21+', '22+']

['20+', '-', '21-', '22+'] ['20+', '21+', '-', '22+']

Image

23X_1q21_recurrent_microduplication_r1: cluster 5 (out of 10)

1. dup(8)(p11.23): tandem duplication on Chr8: 37,169,578-38,449,192 (p11.23 - p11.23) (12, 'tandem_duplication', ['15.1.mt(29+).28+.29+'])

SV rationale gene name gene omim
1 breakpoint proximal FGFR1 136350
1 CN+1 ERLIN2 611605
1 CN+1 PLPBP 604436
1 CN+1 STAR 600617
1 CN+1 DDHD2 615003
1 CN+1 FGFR1 136350
seg index chr start end size
28 Chr8 61,806 37,169,577 37,107,772
29 Chr8 37,169,578 38,449,192 1,279,615
30 Chr8 38,449,193 145,076,124 106,626,932

mt_haps

14: ['28+', '29+', '30+']

15: ['28+', '29+', '29+', '30+']

wt_haps

['28+', '29+', '30+']

['28+', '29+', '30+']

alignments

['28+', '29+', '30+'] ['28+', '29+', '30+']

['28+', '29+', '29+', '30+'] ['28+', '-', '29+', '30+']

Image

23X_1q21_recurrent_microduplication_r1: cluster 6 (out of 10)

1. inv(11)(q24.3q25): inversion on Chr11: 130,312,712-132,145,936 (q24.3 - q25) (4, 'inversion', ['21.1,2.(34+),wt(34+),mt(34-).33+.35+'])

seg index chr start end size
33 Chr11 0 130,312,711 130,312,712
34 Chr11 130,312,712 132,145,936 1,833,225
35 Chr11 132,145,937 135,069,565 2,923,629

mt_haps

20: ['33+', '34+', '35+']

21: ['33+', '34-', '35+']

wt_haps

['33+', '34+', '35+']

['33+', '34+', '35+']

alignments

['33+', '34+', '35+'] ['33+', '34+', '35+']

['33+', '-', '34-', '35+'] ['33+', '34+', '-', '35+']

Image

23X_1q21_recurrent_microduplication_r1: cluster 7 (out of 10)

1. del(16)(q21): deletion on Chr16: 58,241,755-58,334,172 (q21 - q21) (16, 'deletion', ['31.1.wt(43+).42+.44+'])

2. right-dup-inv(16)(q21): right duplication inversion on Chr16: 58,241,755-59,355,469 (q21 - q21) (8, 'right_duplication_inversion', ['31.3.mt(44-,43-).44+.45+'])

SV rationale gene name gene omim
2 CN+1 CNOT1 604917
2 CN+1 GOT2 138150
seg index chr start end size
42 Chr16 14,135 58,241,754 58,227,620
43 Chr16 58,241,755 58,334,172 92,418
44 Chr16 58,334,173 59,355,469 1,021,297
45 Chr16 59,366,996 90,224,750 30,857,755

mt_haps

30: ['42+', '43+', '44+', '45+']

31: ['42+', '44+', '44-', '43-', '45+']

wt_haps

['42+', '43+', '44+', '45+']

['42+', '43+', '44+', '45+']

alignments

['42+', '43+', '44+', '45+'] ['42+', '43+', '44+', '45+']

['42+', '-', '44+', '44-', '43-', '45+'] ['42+', '43+', '44+', '-', '-', '45+']

Image

23X_1q21_recurrent_microduplication_r1: cluster 8 (out of 10)

1. inv(18)(q12.1): inversion on Chr18: 31,097,443-31,948,791 (q12.1 - q12.1) (5, 'inversion', ['35.1,2.(48+),wt(48+),mt(48-).47+.49+'])

2. dup(18)(q21.31): tandem duplication on Chr18: 56,767,452-58,533,687 (q21.31 - q21.31) (13, 'tandem_duplication', ['35.4.mt(50+).49+.50+'])

SV rationale gene name gene omim
2 CN+1 NARS1 108410
2 CN+1 ATP8B1 602397
2 CN+1 NEDD4L 606384
seg index chr start end size
47 Chr18 18,869 31,097,442 31,078,574
48 Chr18 31,097,443 31,948,791 851,349
49 Chr18 31,948,792 56,767,451 24,818,660
50 Chr18 56,767,452 58,533,687 1,766,236
51 Chr18 58,533,688 80,256,373 21,722,686

mt_haps

34: ['47+', '48+', '49+', '50+', '51+']

35: ['47+', '48-', '49+', '50+', '50+', '51+']

wt_haps

['47+', '48+', '49+', '50+', '51+']

['47+', '48+', '49+', '50+', '51+']

alignments

['47+', '48+', '49+', '50+', '51+'] ['47+', '48+', '49+', '50+', '51+']

['47+', '-', '48-', '49+', '50+', '50+', '51+'] ['47+', '48+', '-', '49+', '-', '50+', '51+']

Image

23X_1q21_recurrent_microduplication_r1: cluster 9 (out of 10)

1. ins-t(21;21)(q21.3;q21.3q21.3): balanced non-reciprocal translocation of Chr21: 27,528,222-27,682,460 (q21.3 - q21.3) into Chr21: 27040077(q21.3) (2, 'balanced_translocation_unassociated', ['40.1.mt(56+).55+.56+', '41.1.wt(56+).55+.55-'])

2. ins(21)(q21.3q21.3q21.3): duplicated-insertion of Chr21: 27,528,221-27,040,077 (q21.3 - q21.3) into Chr21: 27,040,077 (q21.3) (17, 'insertion', ['41.2.mt(55-).55+.57+'])

seg index chr start end size
54 Chr21 5,010,515 27,038,647 22,028,133
55 Chr21 27,040,077 27,528,221 488,145
56 Chr21 27,528,222 27,682,460 154,239
57 Chr21 27,682,461 46,697,229 19,014,769

mt_haps

40: ['54+', '55+', '56+', '56+', '57+']

41: ['54+', '55+', '55-', '57+']

wt_haps

['54+', '55+', '56+', '57+']

['54+', '55+', '56+', '57+']

alignments

['54+', '55+', '56+', '56+', '57+'] ['54+', '55+', '-', '56+', '57+']

['54+', '55+', '-', '55-', '57+'] ['54+', '55+', '56+', '-', '57+']

Image

23X_1q21_recurrent_microduplication_r1: cluster 10 (out of 10)

1. dup(X)(q27.3q28): tandem duplication on ChrX: 146,916,100-148,608,907 (q27.3 - q28) (14, 'tandem_duplication', ['45.1.mt(60+).59+.60+'])

SV rationale gene name gene omim
1 breakpoint proximal AFF2 300806
1 CN+1 FMR1 309550
1 CN+1 AFF2 300806
seg index chr start end size
59 ChrX 11,555 146,916,099 146,904,545
60 ChrX 146,916,100 148,608,907 1,692,808
61 ChrX 148,608,908 156,025,611 7,416,704

mt_haps

44: ['59+', '60+', '61+']

45: ['59+', '60+', '60+', '61+']

wt_haps

['59+', '60+', '61+']

['59+', '60+', '61+']

alignments

['59+', '60+', '61+'] ['59+', '60+', '61+']

['59+', '60+', '60+', '61+'] ['59+', '-', '60+', '61+']

Image

23X_Cri_du_Chat_r1: cluster 1 (out of 8)

1. ins-t(1;1)(q25.1;q42.2q42.2): balanced non-reciprocal translocation of Chr1: 230,771,891-233,133,907 (q42.2 - q42.2) into Chr1: 176044007(q25.1) (0, 'balanced_translocation_unassociated', ['1.1.mt(3+).1+.2+', '1.3.wt(3+).2+.4+'])

seg index chr start end size
1 Chr1 0 176,044,006 176,044,007
2 Chr1 176,044,007 230,771,890 54,727,884
3 Chr1 230,771,891 233,133,907 2,362,017
4 Chr1 233,133,908 248,943,333 15,809,426

mt_haps

0: ['1+', '2+', '3+', '4+']

1: ['1+', '3+', '2+', '4+']

wt_haps

['1+', '2+', '3+', '4+']

['1+', '2+', '3+', '4+']

alignments

['1+', '2+', '3+', '4+'] ['1+', '2+', '3+', '4+']

['1+', '3+', '2+', '-', '4+'] ['1+', '-', '2+', '3+', '4+']

Image

23X_Cri_du_Chat_r1: cluster 2 (out of 8)

1. dup(2)(q36.3q37.1): tandem duplication on Chr2: 226,039,457-232,819,457 (q36.3 - q37.1) (11, 'tandem_duplication', ['3.1.mt(8+).7+.8+'])

2. right-dup-inv(2)(q37.1q37.3): right duplication inversion on Chr2: 232,819,458-242,181,357 (q37.1 - q37.3) (8, 'right_duplication_inversion', ['3.3.mt(9-).9+.q-ter'])

SV rationale gene name gene omim
1 CN+1 COL4A4 120131
1 CN+1 COL4A3 120070
1 CN+1 MFF 614785
1 CN+1 TM4SF20 615404
1 CN+1 SLC19A3 606152
1 CN+1 DAW1 620279
1 CN+1 TRIP12 604506
1 CN+1 ARMC9 617612
1 CN+1 DIS3L2 614184
1 CN+1 ECEL1 605896
1 CN+1 PRSS56 613858
1 CN+1 CHRNG 100730
2 CN+1 UGT1A1 191740
2 CN+1 COL6A3 120250
2 CN+1 TWIST2 607556
2 CN+1 HDAC4 605314
2 CN+1 NDUFA10 603835
2 CN+1 CAPN10 605286
2 CN+1 KIF1A 601255
2 CN+1 AGXT 604285
2 CN+1 D2HGDH 609186
seg index chr start end size
5 Chr2 15,925 87,052,278 87,036,354
6 Chr2 87,052,279 87,717,319 665,041
7 Chr2 87,717,320 226,036,358 138,319,039
8 Chr2 226,039,457 232,819,457 6,780,001
9 Chr2 232,819,458 242,181,357 9,361,900

mt_haps

2: ['5+', '6+', '7+', '8+', '9+']

3: ['5+', '6+', '7+', '8+', '8+', '9+', '9-']

wt_haps

['5+', '6+', '7+', '8+', '9+']

['5+', '6+', '7+', '8+', '9+']

alignments

['5+', '6+', '7+', '8+', '9+'] ['5+', '6+', '7+', '8+', '9+']

['5+', '6+', '7+', '8+', '8+', '9+', '9-'] ['5+', '6+', '7+', '-', '8+', '9+', '-']

Image

23X_Cri_du_Chat_r1: cluster 3 (out of 8)

1. t(3;4)(q28;q31.21): balanced translocation between Chr3 and Chr4, between segments Chr3: 190,151,918-198,230,596 (q28 - q29) and Chr4: 143,225,855-190,202,563 (q31.21 - q35.2) (2, 'balanced_translocation_associated<4>', ['4.2.mt(23+).11+.q-ter', '6.3.wt(23+).22+.11+'])

2. ins-t(3;3)(q24;q24q28): balanced non-reciprocal translocation of Chr3: 147,909,504-190,029,108 (q24 - q28) into Chr3: 144143017(q24) (6, 'balanced_translocation_unassociated', ['4.1a.wt(12+).11+.23+', '6.4b.mt(12+).11+.14-'])

3. ins-t(3;3)(q24;q28q28): balanced non-reciprocal translocation of Chr3: 190,029,109-190,151,917 (q28 - q28) into Chr3: 144143017(q24) (1, 'balanced_translocation_unassociated', ['4.1b.wt(13+).11+.23+', '5.3.mt(13+).12+.13+'])

4. ins-t(3;3)(p26.3;q24q24): balanced non-reciprocal translocation of Chr3: 144,143,017-147,909,503 (q24 - q24) into Chr3: 12920(p26.3) (3, 'balanced_translocation_unassociated', ['5.1.wt(11+).10+.12+', '6.4a.mt(11+).22+.12+'])

5. ins-t(9;9)(q31.1;q31.3q34.3): balanced non-reciprocal translocation of Chr9: 111,309,306-138,334,463 (q31.3 - q34.3) into Chr9: 101872667(q31.1) (5, 'balanced_translocation_unassociated', ['7.2b.mt(49+).48+.49-', '7.9.wt(49+).48+.17+'])

6. right-dup-inv(4)(q21.1q22.1): right duplication inversion on Chr4: 77,986,654-87,200,297 (q21.1 - q22.1) (9, 'right_duplication_inversion', ['6.1.mt(20-).20+.21+'])

7. ins(4;Chr3)(q24;q29q28): duplicated-insertion of Chr3: 198,230,596-190,151,918 (q29 - q28) into Chr4: 147,909,504 (q24) (17, 'insertion', ['6.5.mt(14-).12+.14+'])

8. ins(9;Chr4)(pter;p16.3p15.31): duplicated-insertion of Chr4: 12,986-19,427,978 (p16.3 - p15.31) into Chr9: pter (pter) (18, 'insertion', ['7.0.mt(15+,16+,17+).p-ter.16+'])

9. ins(9;Chr4)(p15.33;p15.33p15.33): duplicated-insertion of Chr4: 14,745,749-14,942,587 (p15.33 - p15.33) into Chr9: 14,942,588 (p15.33) (19, 'insertion', ['7.1.mt(16+).17+.48+'])

10. ins(9)(p15.33q31.1q31.3): duplicated-insertion of Chr9: 101,872,667-111,309,305 (q31.1 - q31.3) into Chr9: 14,745,749 (p15.33) (25, 'insertion', ['7.2a.mt(48+).16+.49+'])

11. ins(9)(q31.3q34.3q31.3): duplicated-insertion of Chr9: 138,334,463-111,309,306 (q34.3 - q31.3) into Chr9: 111,309,306 (q31.3) (20, 'insertion', ['7.3.mt(49-).49+.47-'])

12. ins(9)(q34.3q31.1p21.3): duplicated-insertion of Chr9: 101,872,666-20,106,974 (q31.1 - p21.3) into Chr9: 138,334,463 (q34.3) (21, 'insertion', ['7.4.mt(47-,46-,45-,44-).49-.43+'])

13. ins(9)(p21.3p22.3p21.3): duplicated-insertion of Chr9: 16,349,658-20,106,973 (p22.3 - p21.3) into Chr9: 20,186,110 (p21.3) (22, 'insertion', ['7.5.mt(43+).44-.43-'])

14. ins(9)(p22.3p21.3p24.3): duplicated-insertion of Chr9: 20,106,973-356,406 (p21.3 - p24.3) into Chr9: 16,349,658 (p22.3) (23, 'insertion', ['7.6.mt(43-,42-,41-,40-).43+.40-'])

15. left-dup-inv(9)(p24.3p24.1): left duplication inversion on Chr9: 14,567-6,074,294 (p24.3 - p24.1) (10, 'left_duplication_inversion', ['7.7.mt(40-,39-).40-.39+'])

16. ins(9;Chr4)(q31.1;p15.33q35.2): duplicated-insertion of Chr4: 14,942,588-190,202,563 (p15.33 - q35.2) into Chr9: 101,872,667 (q31.1) (24, 'insertion', ['7.10.mt(17+,18+,19+,20+,21+,22+,23+).48+.q-ter'])

SV rationale gene name gene omim
14 breakpoint proximal DOCK8 611432
6,16 CN+2 FRAS1 607830
6,16 CN+2 PRKG2 601591
6,16 CN+2 HNRNPD 601324
6,16 CN+2 COQ2 609825
6,16 CN+2 WDFY3 617485
6,16 CN+2 MAPK10 602897
7 CN+1 FGF12 601513
7 CN+1 TFRC 190010
7 CN+1 PCYT1A 123695
7 CN+1 RNF168 612688
7 CN+1 NRROS 615322
7 CN+1 RUBCN 613516
8 CN+1 PIGG 616918
8 CN+1 IDUA 252800
8 CN+1 CTBP1 602618
8 CN+1 UVSSA 614632
8 CN+1 FGFR3 134934
8 CN+1 LETM1 604407
8 CN+1 NSD2 602952
8 CN+1 SH3BP2 602104
8 CN+1 LRPAP1 104225
8 CN+1 MSX1 142983
8 CN+1 EVC2 607261
8 CN+1 EVC 604831
8 CN+1 WFS1 606201
8 CN+1 HMX1 142992
8 CN+1 NKX3-2 602183
8,16 CN+2 CC2D2A 612013
8,16 CN+2 TAPT1 612758
8,16 CN+2 QDPR 612676
10 CN+1 FKTN 607440
10 CN+1 ZNF462 617371
10 CN+1 FRRS1L 604574
11 CN+1 SLC31A1 603085
11 CN+1 ALAD 125270
11 CN+1 COL27A1 608461
11 CN+1 TRIM32 602290
11 CN+1 CDK5RAP2 608201
11 CN+1 RAB14 612673
11 CN+1 NDUFA8 603359
11 CN+1 RABGAP1 615882
11 CN+1 CRB2 609720
11 CN+1 LMX1B 602575
11 CN+1 STXBP1 602926
11 CN+1 DNM1 602377
11 CN+1 GOLGA2 602580
11 CN+1 COQ4 612898
11 CN+1 SLC27A4 604194
11 CN+1 GLE1 603371
11 CN+1 SPTAN1 182810
11 CN+1 DYNC2I2 613363
11 CN+1 SET 600960
11 CN+1 DOLK 610746
11 CN+1 ASS1 603470
11 CN+1 PRDM12 616458
11 CN+1 EXOSC2 602238
11 CN+1 ABL1 189980
11 CN+1 LAMC3 604349
11 CN+1 NUP214 114350
11 CN+1 POMT1 607423
11 CN+1 MED27 605044
11 CN+1 NTNG2 618689
11 CN+1 TSC1 605284
11 CN+1 RALGDS 601619
11 CN+1 SURF1 185620
11 CN+1 ADAMTSL2 612277
11 CN+1 WDR5 609012
11 CN+1 MRPS2 611971
11 CN+1 KCNT1 608167
11 CN+1 CAMSAP1 613774
11 CN+1 LHX3 600577
11 CN+1 INPP5E 613037
11 CN+1 NOTCH1 190198
11 CN+1 RABL6 610615
11 CN+1 MAN1B1 604346
11 CN+1 GRIN1 138249
11 CN+1 EHMT1 607001
11 CN+1 CACNA1B 601012
12 CN+1 PLAA 603873
12 CN+1 IFT74 608040
12 CN+1 TEK 600221
12 CN+1 RIGI 609631
12 CN+1 APTX 606350
12 CN+1 B4GALT1 137060
12 CN+1 NUDT2 602852
12 CN+1 GALT 606999
12 CN+1 IL11RA 600939
12 CN+1 VCP 601023
12 CN+1 FANCG 602956
12 CN+1 PIGO 614730
12 CN+1 TPM2 190990
12 CN+1 GBA2 609471
12 CN+1 NPR2 108961
12 CN+1 GNE 603824
12 CN+1 EXOSC3 606489
12 CN+1 SMC5 609386
12 CN+1 TRPM3 608961
12 CN+1 RORB 601972
12 CN+1 GNA14 604397
12 CN+1 GNAQ 600998
12 CN+1 PSAT1 610936
12 CN+1 HNRNPK 600712
12 CN+1 RMI1 610404
12 CN+1 NTRK2 600456
12 CN+1 AGTPBP1 606830
12 CN+1 SECISBP2 607693
12 CN+1 AUH 600529
12 CN+1 ROR2 602337
12 CN+1 IARS1 600709
12 CN+1 BICD2 609797
12 CN+1 FBP1 611570
12 CN+1 FANCC 613899
12 CN+1 PTCH1 601309
12 CN+1 ERCC6L2 615667
12 CN+1 TDRD7 611258
12 CN+1 XPA 611153
12 CN+1 FOXE1 602617
12 CN+1 NANS 605202
12 CN+1 GABBR2 607340
12 CN+1 TGFBR1 190181
12 CN+1 ALG2 607905
13,14 CN+2 BNC2 608669
14,15 CN+2 DOCK8 611432
14,15 CN+2 KANK1 607704
14,15 CN+2 SMARCA2 600014
14,15 CN+2 VLDLR 192977
14,15 CN+2 GLIS3 610192
14 CN+1 GLDC 238300
14 CN+1 TYRP1 115501
14 CN+1 MPDZ 603785
14 CN+1 NFIB 600728
14 CN+1 FREM1 608944
16 CN+1 SEPSECS 613009
16 CN+1 RBPJ 147183
16 CN+1 WDR19 608151
16 CN+1 LIAS 607031
16 CN+1 PHOX2B 603851
16 CN+1 GABRG1 137166
16 CN+1 GABRA2 137140
16 CN+1 KIT 164920
16 CN+1 SRD5A3 611715
16 CN+1 TMEM165 614726
16 CN+1 CEP135 611423
16 CN+1 REST 600571
16 CN+1 IGFBP7 602867
16 CN+1 SLC4A4 603345
16 CN+1 ANKRD17 615929
16 CN+1 ODAPH 614829
16 CN+1 NUP54 607607
16 CN+1 SHROOM3 604570
16 CN+1 DSPP 125485
16 CN+1 DMP1 600980
16 CN+1 PIGY 610662
16 CN+1 GRID2 602368
16 CN+1 BMPR1B 603248
16 CN+1 TRMT10A 616013
16 CN+1 PPP3CA 114105
16 CN+1 SLC39A8 608732
16 CN+1 MANBA 609489
16 CN+1 CISD2 611507
16 CN+1 TACR3 162332
16 CN+1 PPA2 609988
16 CN+1 TBCK 616899
16 CN+1 AIMP1 603605
16 CN+1 CYP2U1 610670
16 CN+1 HADH 601609
16 CN+1 LEF1 153245
16 CN+1 COL25A1 610004
16 CN+1 LRIT3 615004
16 CN+1 PITX2 601542
16 CN+1 LARP7 612026
16 CN+1 ANK2 106410
16 CN+1 PRSS12 606709
16 CN+1 SEC24D 607186
16 CN+1 NDNF 616506
16 CN+1 EXOSC9 606180
16 CN+1 CCNA2 123835
16 CN+1 BBS7 607590
16 CN+1 BLTP1 611565
16 CN+1 BBS12 610683
16 CN+1 SPRY1 602465
16 CN+1 FAT4 612411
16 CN+1 PLK4 605031
16 CN+1 MFSD8 611124
16 CN+1 NAA15 608000
16 CN+1 MMAA 607481
16 CN+1 SLC10A7 611459
16 CN+1 EDNRA 131243
16 CN+1 PRMT9 616125
16 CN+1 LRBA 606453
16 CN+1 MAB21L2 604357
16 CN+1 FBXW7 606278
16 CN+1 LRAT 604863
16 CN+1 GLRB 138492
16 CN+1 GRIA2 138247
16 CN+1 ETFDH 231675
16 CN+1 TLL1 606742
16 CN+1 NEK1 604588
16 CN+1 CLCN3 600580
16 CN+1 HPGD 601688
16 CN+1 AGA 613228
16 CN+1 TRAPPC11 614138
16 CN+1 SLC25A4 103220
16 CN+1 UFSP2 611482
seg index chr start end size
10 Chr3 12,920 144,143,016 144,130,097
11 Chr3 144,143,017 147,909,503 3,766,487
12 Chr3 147,909,504 190,029,108 42,119,605
13 Chr3 190,029,109 190,151,917 122,809
14 Chr3 190,151,918 198,230,596 8,078,679
15 Chr4 12,986 14,742,693 14,729,708
16 Chr4 14,745,749 14,942,587 196,839
17 Chr4 14,942,588 19,427,978 4,485,391
18 Chr4 19,443,124 77,917,311 58,474,188
19 Chr4 77,917,312 77,986,653 69,342
20 Chr4 77,986,654 87,200,297 9,213,644
21 Chr4 87,200,298 87,306,079 105,782
22 Chr4 87,306,080 143,225,854 55,919,775
23 Chr4 143,225,855 190,202,563 46,976,709
39 Chr9 14,567 356,405 341,839
40 Chr9 356,406 6,074,294 5,717,889
41 Chr9 6,074,295 16,144,120 10,069,826
42 Chr9 16,144,121 16,349,657 205,537
43 Chr9 16,349,658 20,106,973 3,757,316
44 Chr9 20,106,974 20,186,110 79,137
45 Chr9 20,186,111 63,401,812 43,215,702
46 Chr9 63,401,813 64,814,182 1,412,370
47 Chr9 64,814,183 101,872,666 37,058,484
48 Chr9 101,872,667 111,309,305 9,436,639
49 Chr9 111,309,306 138,334,463 27,025,158

mt_haps

4: ['10+', '11+', '23+']

5: ['10+', '12+', '13+', '13+', '14+']

6: ['15+', '16+', '17+', '18+', '19+', '20+', '20-', '21+', '22+', '11+', '12+', '14-', '14+']

7: ['15+', '16+', '17+', '16+', '48+', '49+', '49-', '47-', '46-', '45-', '44-', '43+', '43-', '42-', '41-', '40-', '40-', '39-', '39+', '40+', '41+', '42+', '43+', '44+', '45+', '46+', '47+', '48+', '17+', '18+', '19+', '20+', '21+', '22+', '23+']

wt_haps

['10+', '11+', '12+', '13+', '14+']

['10+', '11+', '12+', '13+', '14+']

['15+', '16+', '17+', '18+', '19+', '20+', '21+', '22+', '23+']

['39+', '40+', '41+', '42+', '43+', '44+', '45+', '46+', '47+', '48+', '49+']

alignments

['10+', '11+', '-', '-', '-', '23+'] ['10+', '11+', '12+', '13+', '14+', '-']

['10+', '-', '12+', '13+', '13+', '14+'] ['10+', '11+', '12+', '-', '13+', '14+']

['15+', '16+', '17+', '18+', '19+', '20+', '20-', '21+', '22+', '-', '11+', '12+', '14-', '14+'] ['15+', '16+', '17+', '18+', '19+', '20+', '-', '21+', '22+', '23+', '-', '-', '-', '-']

['15+', '16+', '17+', '16+', '48+', '49+', '49-', '47-', '46-', '45-', '44-', '43+', '43-', '42-', '41-', '40-', '40-', '39-', '39+', '40+', '41+', '42+', '43+', '44+', '45+', '46+', '47+', '48+', '-', '17+', '18+', '19+', '20+', '21+', '22+', '23+'] ['-', '-', '-', '-', '-', '-', '-', '-', '-', '-', '-', '-', '-', '-', '-', '-', '-', '-', '39+', '40+', '41+', '42+', '43+', '44+', '45+', '46+', '47+', '48+', '49+', '-', '-', '-', '-', '-', '-', '-']

Image

23X_Cri_du_Chat_r1: cluster 4 (out of 8)

1. del(5)(p15.33p11): deletion on Chr5: 254,719-46,400,789 (p15.33 - p11) (14, 'deletion', ['9.1.wt(25+).24+.26+'])

2. del(5)(q11.1q35.3): deletion on Chr5: 49,709,239-181,301,991 (q11.1 - q35.3) (15, 'deletion', ['9.3.wt(27+,28+).26+.29+'])

SV rationale gene name gene omim
1 breakpoint proximal SDHA 600857
1 CN-1 SDHA 600857
1 CN-1 TRIP13 604507
1 CN-1 TERT 187270
1 CN-1 SLC6A3 126455
1 CN-1 NSUN2 610916
1 CN-1 MTRR 602568
1 CN-1 CTNND2 604275
1 CN-1 DNAH5 603335
1 CN-1 TRIO 601893
1 CN-1 OTULIN 615712
1 CN-1 ANKH 605145
1 CN-1 RETREG1 613114
1 CN-1 NPR3 108962
1 CN-1 TARS1 187790
1 CN-1 LMBRD2 619490
1 CN-1 NADK2 615787
1 CN-1 NIPBL 608667
1 CN-1 CPLANE1 614571
1 CN-1 LIFR 151443
1 CN-1 OXCT1 601424
1 CN-1 GHR 600946
1 CN-1 FGF10 602115
1 CN-1 HCN1 602780
2 CN-1 MOCS2 603708
2 CN-1 NDUFS4 602694
2 CN-1 CCNO 607752
2 CN-1 MAP3K1 600982
2 CN-1 PDE4D 600129
2 CN-1 ERCC8 609412
2 CN-1 NDUFAF2 609653
2 CN-1 ZSWIM6 615951
2 CN-1 KIF2A 602591
2 CN-1 CWC27 617170
2 CN-1 PIK3R1 171833
2 CN-1 OCLN 602876
2 CN-1 MCCC2 609014
2 CN-1 HEXB 606873
2 CN-1 CERT1 604677
2 CN-1 ARSB 611542
2 CN-1 DHFR 126060
2 CN-1 RPS23 603683
2 CN-1 XRCC4 194363
2 CN-1 RASA1 139150
2 CN-1 MEF2C 600662
2 CN-1 NR2F1 132890
2 CN-1 SKIC3 614589
2 CN-1 CHD1 602118
2 CN-1 FEM1C 608767
2 CN-1 HSD17B4 601860
2 CN-1 PRDM6 616982
2 CN-1 ALDH7A1 107323
2 CN-1 LMNB1 150340
2 CN-1 MEGF10 612453
2 CN-1 FBN2 612570
2 CN-1 HINT1 601314
2 CN-1 SLC22A5 603377
2 CN-1 RAD50 604040
2 CN-1 UQCRQ 612080
2 CN-1 AFF4 604417
2 CN-1 PPP2CA 176915
2 CN-1 PITX1 602149
2 CN-1 KDM3B 609373
2 CN-1 SIL1 608005
2 CN-1 PURA 600473
2 CN-1 HARS1 142810
2 CN-1 PCDHGC4 606305
2 CN-1 PCDH12 605622
2 CN-1 SLC26A2 606718
2 CN-1 CSF1R 164770
2 CN-1 PDGFRB 173410
2 CN-1 CAMK2A 114078
2 CN-1 TCOF1 606847
2 CN-1 NDST1 600853
2 CN-1 GM2A 613109
2 CN-1 SPARC 182120
2 CN-1 GLRA1 138491
2 CN-1 GRIA1 138248
2 CN-1 GEMIN5 607005
2 CN-1 CYFIP2 606323
2 CN-1 THG1L 618802
2 CN-1 GABRB2 600232
2 CN-1 GABRA1 137160
2 CN-1 GABRG2 137164
2 CN-1 RARS1 107820
2 CN-1 NPM1 164040
2 CN-1 FBXW11 605651
2 CN-1 SH3PXD2B 613293
2 CN-1 NKX2-5 600584
2 CN-1 MSX2 123101
2 CN-1 NSD1 606681
2 CN-1 B4GALT7 604327
2 CN-1 PROP1 601538
2 CN-1 NHP2 606470
2 CN-1 GRM6 604096
2 CN-1 HNRNPH1 601035
2 CN-1 FLT4 136352
seg index chr start end size
24 Chr5 19,315 254,718 235,404
25 Chr5 254,719 46,400,789 46,146,071
26 Chr5 46,400,790 49,709,238 3,308,449
27 Chr5 49,709,239 70,612,428 20,903,190
28 Chr5 70,612,429 181,301,991 110,689,563
29 Chr5 181,301,992 181,472,713 170,722

mt_haps

8: ['24+', '25+', '26+', '27+', '28+', '29+']

9: ['24+', '26+', '29+']

wt_haps

['24+', '25+', '26+', '27+', '28+', '29+']

['24+', '25+', '26+', '27+', '28+', '29+']

alignments

['24+', '25+', '26+', '27+', '28+', '29+'] ['24+', '25+', '26+', '27+', '28+', '29+']

['24+', '-', '26+', '-', '-', '29+'] ['24+', '25+', '26+', '27+', '28+', '29+']

Image

23X_Cri_du_Chat_r1: cluster 5 (out of 8)

1. inv(6)(q15): inversion on Chr6: 88,086,189-90,985,092 (q15 - q15) (7, 'inversion', ['11.1,2.(31+),wt(31+),mt(31-).30+.32+'])

seg index chr start end size
30 Chr6 0 88,086,188 88,086,189
31 Chr6 88,086,189 90,985,092 2,898,904
32 Chr6 90,985,093 170,739,897 79,754,805

mt_haps

10: ['30+', '31+', '32+']

11: ['30+', '31-', '32+']

wt_haps

['30+', '31+', '32+']

['30+', '31+', '32+']

alignments

['30+', '31+', '32+'] ['30+', '31+', '32+']

['30+', '-', '31-', '32+'] ['30+', '31+', '-', '32+']

Image

23X_Cri_du_Chat_r1: cluster 6 (out of 8)

1. dup(7)(q21.11q21.12): tandem duplication on Chr7: 81,851,429-88,398,274 (q21.11 - q21.12) (12, 'tandem_duplication', ['13.1.mt(35+).34+.35+'])

SV rationale gene name gene omim
1 CN+1 CACNA2D1 114204
1 CN+1 SEMA3A 603961
1 CN+1 ADAM22 603709
seg index chr start end size
33 Chr7 10,488 81,767,674 81,757,187
34 Chr7 81,767,675 81,851,428 83,754
35 Chr7 81,851,429 88,398,274 6,546,846
36 Chr7 88,398,275 88,552,922 154,648
37 Chr7 88,552,923 159,334,983 70,782,061

mt_haps

12: ['33+', '34+', '35+', '36+', '37+']

13: ['33+', '34+', '35+', '35+', '36+', '37+']

wt_haps

['33+', '34+', '35+', '36+', '37+']

['33+', '34+', '35+', '36+', '37+']

alignments

['33+', '34+', '35+', '36+', '37+'] ['33+', '34+', '35+', '36+', '37+']

['33+', '34+', '35+', '35+', '36+', '37+'] ['33+', '34+', '-', '35+', '36+', '37+']

Image

23X_Cri_du_Chat_r1: cluster 7 (out of 8)

1. del(16)(q22.3q23.2): deletion on Chr16: 73,630,447-80,880,326 (q22.3 - q23.2) (16, 'deletion', ['29.1.wt(57+,58+).56+.59+'])

SV rationale gene name gene omim
1 breakpoint proximal ZFHX3 104155
1 CN-1 ZFHX3 104155
1 CN-1 KARS1 601421
1 CN-1 ADAMTS18 607512
1 CN-1 WWOX 605131
1 CN-1 MAF 177075
seg index chr start end size
56 Chr16 14,135 73,630,446 73,616,312
57 Chr16 73,630,447 80,819,841 7,189,395
58 Chr16 80,819,842 80,880,326 60,485
59 Chr16 80,880,327 90,224,750 9,344,424

mt_haps

28: ['56+', '57+', '58+', '59+']

29: ['56+', '59+']

wt_haps

['56+', '57+', '58+', '59+']

['56+', '57+', '58+', '59+']

alignments

['56+', '57+', '58+', '59+'] ['56+', '57+', '58+', '59+']

['56+', '-', '-', '59+'] ['56+', '57+', '58+', '59+']

Image

23X_Cri_du_Chat_r1: cluster 8 (out of 8)

1. dup(20)(p12.3p12.2): tandem duplication on Chr20: 5,913,482-9,904,885 (p12.3 - p12.2) (13, 'tandem_duplication', ['37.1.mt(64+).63+.64+'])

SV rationale gene name gene omim
1 CN+1 CRLS1 608188
1 CN+1 BMP2 112261
1 CN+1 PLCB1 607120
1 CN+1 PLCB4 600810
seg index chr start end size
63 Chr20 70,157 5,913,481 5,843,325
64 Chr20 5,913,482 9,904,885 3,991,404
65 Chr20 9,904,886 64,333,717 54,428,832

mt_haps

36: ['63+', '64+', '65+']

37: ['63+', '64+', '64+', '65+']

wt_haps

['63+', '64+', '65+']

['63+', '64+', '65+']

alignments

['63+', '64+', '65+'] ['63+', '64+', '65+']

['63+', '64+', '64+', '65+'] ['63+', '-', '64+', '65+']

Image